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Select item 111897481.

Dissecting 16p11.2 hemi-deletion to study sex-specific striatal phenotypes of neurodevelopmental disorders

Jaekyoon Kim, Yann Vanrobaeys, Benjamin Kelvington, Zeru Peterson, Emily Baldwin, Marie E. Gaine, Thomas Nickl-Jockschat, Ted Abel

Mol Psychiatry. Author manuscript; available in PMC 2024 Jun 21.

Published in final edited form as: Mol Psychiatry. 2024 May; 29(5): 1310–1321. Published online 2024 Jan 26. doi: 10.1038/s41380-024-02411-0

PMCID:: PMC11189748

Abstract Article PDF–1.4M

Select item 111196362.

Clinical characterisation of polydactyly in Maine Coon cats

Alexia Hamelin, Dominique Begon, Fabrice Conchou, Marion Fusellier, Marie Abitbol

J Feline Med Surg. 2017 Apr; 19(4): 382–393. Published online 2016 Feb 1. doi: 10.1177/1098612X16628920

PMCID:: PMC11119636

Abstract Article PDF–1.1M

Select item 109826353.

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys

J Med Genet. 2024 Apr; 61(4): 363–368. Published online 2024 Jan 30. doi: 10.1136/jmg-2023-109151

PMCID:: PMC10982635

Abstract Article PDF–828K

Select item 109262514.

Сравнительный анализ костных осложнений при МЭН1-ассоциированном и спорадическом первичном гиперпаратиреозе

Пылина С. В., Еремкина А. К., Елфимова А. Р., Горбачева А. М., Мокрышева Н. Г.

Probl Endokrinol (Mosk) 2024; 70(1): 81–90. Russian. Published online 2024 Feb 28. doi: 10.14341/probl13385

PMCID:: PMC10926251

Abstract Article PDF–199K

Select item 108483745.

Body weight, behaviours of concern, and social contact in adults and adolescents with Prader-Willi syndrome in full-time care services: Findings from pooled international archival data

Brian M. Hughes, Anthony Holland, Norbert Hödebeck-Stuntebeck, Lynn Garrick, Anthony P. Goldstone, Mark Lister, Craig Moore, Marguerite Hughes

Orphanet J Rare Dis. 2024; 19: 48. Published online 2024 Feb 7. doi: 10.1186/s13023-024-03035-x

PMCID:: PMC10848374

Abstract Article PDF–1.5M

Select item 108120166.

Cardiomyopathy associated 5 (CMYA5) implicated as a genetic risk factor for radial hemimelia in Siamese cats

Nüket Bilgen, Bengi Çınar Kul, Mustafa Yenal Akkurt, Caner Bakıcı, Reuben M Buckley, Leslie A Lyons, Lyndon M Coghill, Özge Şebnem Çıldır, Furkan Kutlu

J Feline Med Surg. 2023 Oct; 25(10): 1098612X231193557. Published online 2023 Oct 4. doi: 10.1177/1098612X231193557

PMCID:: PMC10812016

Abstract Article PDF–1.2M

Select item 107994607.

A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia

Duowen Huang, Mingyan Jiang, Yiping Zhu, Dongjun Li, Xiaoxi Lu, Ju Gao

BMC Pediatr. 2024; 24: 62. Published online 2024 Jan 20. doi: 10.1186/s12887-024-04552-1

PMCID:: PMC10799460

Abstract Article PDF–1.6M

Select item 107676128.

A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review

Yadong Fu, Yueyun Zhou, Qing'e Zhang, Jingjing Dong, Jianli Zheng, Min Li, Jianbing Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2319. Published online 2023 Nov 27. doi: 10.1002/mgg3.2319

PMCID:: PMC10767612

Abstract Article PDF–2.0M

Select item 105931359.

Refractive Status and Biometric Characteristics of Children With Familial Exudative Vitreoretinopathy

Yarou Hu, Zixin Fan, Xinyu Zhao, Victor S. M. C. Correa, Zhenquan Wu, Xiaofeng Lu, Xianlu Zeng, Laijiao Chen, Zhen Yu, Lei Zheng, Jicang He, Guoming Zhang

Invest Ophthalmol Vis Sci. 2023 Oct; 64(13): 27. Published online 2023 Oct 18. doi: 10.1167/iovs.64.13.27

PMCID:: PMC10593135

Abstract Article PDF–559K

Select item 1040939510.

一个血小板减少伴桡骨缺失综合征家系的遗传学研究及产前诊断

丽丁, 颖之黄, 叶青钱, 旻岳董

Sichuan Da Xue Xue Bao Yi Xue Ban. 2021 Jul 20; 52(4): 711–715. Chinese. doi: 10.12182/20210760508

PMCID:: PMC10409395

Abstract Article PDF–2.3M

Select item 992627711.

KIF1A is kinetically tuned to be a superengaging motor under hindering loads

Serapion Pyrpassopoulos, Allison M. Gicking, Taylor M. Zaniewski, William O. Hancock, E. Michael Ostap

Proc Natl Acad Sci U S A. 2023 Jan 10; 120(2): e2216903120. Published online 2023 Jan 4. doi: 10.1073/pnas.2216903120

PMCID:: PMC9926277

Abstract Article PDF–4.0M

Select item 974246712.

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Jin Zhang, Kwan Leong Woo, Yongxiong Hai, Shimin Wang, Ying Lin, Ying Huang, Xiaofang Peng, HongShi Wu, Shaoling Zhang, Li Yan, Yan Li

Front Endocrinol (Lausanne) 2022; 13: 1020880. Published online 2022 Nov 28. doi: 10.3389/fendo.2022.1020880

PMCID:: PMC9742467

Abstract Article PDF–1.6M

Select item 966752513.

CRISPR/Cas9‐mediated deletion of Fam83h induces defective tooth mineralization and hair development in rabbits

Yuxin Zhang, Jie Yang, Haobin Yao, Zhongtian Zhang, Yuning Song

J Cell Mol Med. 2022 Nov; 26(22): 5670–5679. Published online 2022 Oct 27. doi: 10.1111/jcmm.17597

PMCID:: PMC9667525

Abstract Article PDF–4.6M

Select item 945566914.

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles

Catarina Monteiro, Ana Gonçalves, Jorge Oliveira, Ramon Salvado, Jorge Tomaz, Sara Morais, Margarida Lima, Rosário Santos

Int J Mol Sci. 2022 Sep; 23(17): 9621. Published online 2022 Aug 25. doi: 10.3390/ijms23179621

PMCID:: PMC9455669

Abstract Article PDF–782K

Select item 880114815.

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis

Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu

Mol Genet Genomic Med. 2022 Jan; 10(1): e1850. Published online 2021 Dec 24. doi: 10.1002/mgg3.1850

PMCID:: PMC8801148

Abstract Article PDF–1.5M

Select item 839325616.

Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi–Goutières Syndrome and Singleton–Merten Syndrome

Vijayakumar Gosu, Santanu Sasidharan, Prakash Saudagar, Hak-Kyo Lee, Donghyun Shin

Biomolecules. 2021 Aug; 11(8): 1251. Published online 2021 Aug 21. doi: 10.3390/biom11081251

PMCID:: PMC8393256

Abstract Article PDF–3.0M

Select item 817058717.

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis

Harvy M. Velasco, Ehsan Ullah, Angela M. Martin, Robert B. Hufnagel, Carlos E. Prada

Am J Med Genet A. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2214–2221. Published online 2020 Aug 11. doi: 10.1002/ajmg.a.61782

PMCID:: PMC8170587

Abstract Article PDF–1.0M

Select item 744542418.

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

Rajesh Madhu, Glenda M. Beaman, Kate E. Chandler, James O'Sullivan, Jill E. Urquhart, Naz Khan, Elizabeth Martindale, Tracy A. Briggs, Jill Clayton-Smith, Jenny Higgs, Gauri Batra, Bronwyn Kerr, Adrian S. Woolf, William G. Newman

Eur J Med Genet. 2020 Sep; 63(9): 103974. doi: 10.1016/j.ejmg.2020.103974

PMCID:: PMC7445424

Abstract Article

Select item 713210419.

Hox genes maintain critical roles in the adult skeleton

Jane Y. Song, Kyriel M. Pineault, Jesús M. Dones, Ronald T. Raines, Deneen M. Wellik

Proc Natl Acad Sci U S A. 2020 Mar 31; 117(13): 7296–7304. Published online 2020 Mar 13. doi: 10.1073/pnas.1920860117

PMCID:: PMC7132104

Abstract Article PDF–2.1M

Select item 691315520.

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes

Seth A. Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, Jieqiong Dai, Mia Steinberg, Joshua P. Waterfall, David Roberson, Bari J. Ballew, Weiyin Zhou, Sarah L. Anzick, Yuan Jiang, Yonghong Wang, Yuelin J. Zhu, Paul S. Meltzer, Joseph Boland, Blanche P. Alter, Sharon A. Savage

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004564. doi: 10.1101/mcs.a004564